000 02176 a2200685 4500
005 20250516212851.0
264 0 _c20150330
008 201503s 0 0 eng d
022 _a1098-1004
024 7 _a10.1002/humu.22590
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aDiodato, Daria
245 0 0 _aVARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.
_h[electronic resource]
260 _bHuman mutation
_cAug 2014
300 _a983-9 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aCell Line
650 0 4 _aChild
650 0 4 _aDNA, Mitochondrial
_xgenetics
650 0 4 _aElectron Transport Complex I
_xgenetics
650 0 4 _aFibroblasts
_xcytology
650 0 4 _aHLA Antigens
_xgenetics
650 0 4 _aHeterozygote
650 0 4 _aHomozygote
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aIsoenzymes
_xgenetics
650 0 4 _aMale
650 0 4 _aMitochondria
_xenzymology
650 0 4 _aMitochondrial Encephalomyopathies
_xenzymology
650 0 4 _aMutation
650 0 4 _aPolymorphism, Genetic
650 0 4 _aRNA, Messenger
_xgenetics
650 0 4 _aRNA, Transfer, Thr
_xgenetics
650 0 4 _aRNA, Transfer, Val
_xgenetics
650 0 4 _aSaccharomyces cerevisiae
_xgenetics
650 0 4 _aThreonine-tRNA Ligase
_xgenetics
650 0 4 _aValine-tRNA Ligase
_xgenetics
700 1 _aMelchionda, Laura
700 1 _aHaack, Tobias B
700 1 _aDallabona, Cristina
700 1 _aBaruffini, Enrico
700 1 _aDonnini, Claudia
700 1 _aGranata, Tiziana
700 1 _aRagona, Francesca
700 1 _aBalestri, Paolo
700 1 _aMargollicci, Maria
700 1 _aLamantea, Eleonora
700 1 _aNasca, Alessia
700 1 _aPowell, Christopher A
700 1 _aMinczuk, Michal
700 1 _aStrom, Tim M
700 1 _aMeitinger, Thomas
700 1 _aProkisch, Holger
700 1 _aLamperti, Costanza
700 1 _aZeviani, Massimo
700 1 _aGhezzi, Daniele
773 0 _tHuman mutation
_gvol. 35
_gno. 8
_gp. 983-9
856 4 0 _uhttps://doi.org/10.1002/humu.22590
_zAvailable from publisher's website
999 _c23824776
_d23824776